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Details on Person UniProt:Q15878 CACNA1E
| Class:Id | ReferenceGeneProduct:51548 |
|---|---|
| _chainChangeLog | chain:1-2313 added on Fri February 6 2015 |
| _displayName | UniProt:Q15878 CACNA1E |
| _timestamp | 2025-02-21 18:34:46 |
| chain | chain:1-2313 |
| checksum | CCC7F309C27C42F1 |
| comment | FUNCTION Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells (PubMed:30343943). They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents. R-type calcium channels belong to the 'high-voltage activated' (HVA) group and are blocked by nickel. They are however insensitive to dihydropyridines (DHP). Calcium channels containing alpha-1E subunit could be involved in the modulation of firing patterns of neurons which is important for information processing.FUNCTION Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells. They are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1E gives rise to R-type calcium currents.CATALYTIC ACTIVITY Ca(2+)(in) = Ca(2+)(out)CATALYTIC ACTIVITY Ca(2+)(in) = Ca(2+)(out)SUBUNIT Interacts with EFHC1. Voltage-dependent calcium channels are multisubunit complexes, consisting of alpha-1, alpha-2, beta and delta subunits in a 1:1:1:1 ratio. The channel activity is directed by the pore-forming and voltage-sensitive alpha-1 subunit. In many cases, this subunit is sufficient to generate voltage-sensitive calcium channel activity. The auxiliary subunits beta and alpha-2/delta linked by a disulfide bridge regulate the channel activity.SUBCELLULAR LOCATION Expressed in neuronal tissues and in kidney.DOMAIN Each of the four internal repeats contains five hydrophobic transmembrane segments (S1, S2, S3, S5, S6) and one positively charged transmembrane segment (S4). S4 segments probably represent the voltage-sensor and are characterized by a series of positively charged amino acids at every third position.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1E subfamily. |
| description | recommendedName: Voltage-dependent R-type calcium channel subunit alpha-1E alternativeName: Brain calcium channel II shortName: BII alternativeName: Calcium channel, L type, alpha-1 polypeptide, isoform 6 alternativeName: Voltage-gated calcium channel subunit alpha Cav2.3 |
| geneName | CACNA1E CACH6 CACNL1A6 |
| identifier | Q15878 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Alternative splicing Calcium Calcium channel Calcium transport Disease variant Disulfide bond Epilepsy Glycoprotein Ion channel Ion transport Membrane Metal-binding Phosphoprotein Proteomics identification Reference proteome Repeat Transmembrane Transmembrane helix Transport Voltage-gated channel |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | CACNA1E |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:9001639] ENSEMBL:ENSG00000198216 CACNA1E [Homo sapiens] |
| secondaryIdentifier | CAC1E_HUMAN B1AM12 B1AM13 B1AM14 Q14580 Q14581 |
| sequenceLength | 2313 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:145066] UniProt:Q15878-2 CACNA1E [Homo sapiens] [ReferenceIsoform:221116] UniProt:Q15878-3 CACNA1E [Homo sapiens] [ReferenceIsoform:405895] UniProt:Q15878-1 CACNA1E [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:210356] CACNA1E [plasma membrane] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:Q15878 CACNA1E (51548)
